Q4H (p.Gln4His) variant of ATP7B (Copper-transporting ATPase 2)
Q4H (p.Gln4His) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q4H (p.Gln4His) variant details
- p.Gln4His
- TOPMed rs1316450845
- gnomAD rs1316450845
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 15.50
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available